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Links from MedGen

Items: 1 to 100 of 243

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NAV3
(Q222*)
Single nucleotide variant
(nonsense)
Broad eyebrow
+6 more
GUncertain significance
SLC32A1
(L374P)
Single nucleotide variant
(missense variant)
Obesity
+2 more
GUncertain significance
SREBF1
(V725I +11 more)
Single nucleotide variant
(missense variant +1 more)
Obesity
GUncertain significance
NR0B2, NUDC
(N176K)
Single nucleotide variant
(missense variant)
Obesity
GUncertain significance
MC3R
(F45S)
Single nucleotide variant
(missense variant)
MC3R-related condition
+1 more
GUncertain significance
MC3R
(T13A)
Single nucleotide variant
(missense variant)
Obesity
+1 more
GUncertain significance
GHRL, GHRLOS
(K34fs +4 more)
Deletion
(frameshift variant)
Obesity
GUncertain significance
MC4R
(M91R)
Single nucleotide variant
(missense variant)
Obesity
GLikely pathogenic
MC4R
(Q43K)
Single nucleotide variant
(missense variant)
Obesity
GLikely pathogenic
MC3R
(V51L)
Single nucleotide variant
(missense variant)
Obesity
GLikely benign
LOC126862765, ZNF532
(V1086fs +6 more)
Duplication
(frameshift variant +1 more)
Obesity
+1 more
GUncertain significance
PRTG
(P541R)
Single nucleotide variant
(missense variant)
Obesity
+1 more
GUncertain significance
MYH10
(R749* +3 more)
Single nucleotide variant
(nonsense)
Obesity
+4 more
GUncertain significance
ENPP1
Single nucleotide variant
(intron variant)
Arterial calcification, generalized, of infancy, 1
+5 more
GLikely benign
ENPP1
Insertion
(intron variant)
Arterial calcification, generalized, of infancy, 1
+5 more
GLikely benign
ENPP1
Single nucleotide variant
(intron variant)
Arterial calcification, generalized, of infancy, 1
+5 more
GLikely benign
ENPP1
(G751E)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
ENPP1
(N199D)
Single nucleotide variant
(missense variant)
Arterial calcification, generalized, of infancy, 1
+5 more
GUncertain significance
ENPP1
(Y451C)
Single nucleotide variant
(missense variant)
Arterial calcification, generalized, of infancy, 1
+5 more
GConflicting classifications of pathogenicity
POMC
(R145H)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
NR0B2, NUDC
(R238C)
Single nucleotide variant
(missense variant)
Obesity
+1 more
GUncertain significance
LOC129933280, POMC
(M60fs)
Deletion
(frameshift variant)
Obesity
GLikely pathogenic
KSR2
(R838C)
Single nucleotide variant
(missense variant)
Hyperlipidemia
+5 more
GUncertain significance
UCP3
(R308W)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
UCP3
(M129T)
Single nucleotide variant
(missense variant)
Obesity
+1 more
GUncertain significance
UCP3
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
DNMT3A
(C326* +3 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Macrocephaly
+5 more
GPathogenic
C1R, NINJ2
+106 more
Copy number gain
Single transverse palmar crease
+6 more
GPathogenic
AGPAT5, ANGPT2
+22 more
Copy number loss
Single transverse palmar crease
+6 more
GPathogenic
UQCRC2, VWA3A
+9 more
Copy number loss
Abnormal foot morphology
+4 more
GPathogenic
SIM1
(D273N)
Single nucleotide variant
(missense variant)
Obesity
GUncertain significance
ENPP1
(R782*)
Single nucleotide variant
(nonsense)
Obesity
+6 more
GPathogenic
ENPP1
Duplication
(intron variant)
Hypophosphatemic rickets, autosomal recessive, 2
+5 more
GBenign/Likely benign
ENPP1
Single nucleotide variant
(intron variant)
not provided
+5 more
GLikely benign
ADRB3
(N338S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
ADRB3
(K151R)
Single nucleotide variant
(missense variant)
Obesity
+1 more
GUncertain significance
AGRP, ATP6V0D1-DT
Single nucleotide variant
(synonymous variant)
Obesity
GUncertain significance
STAP2, TMIGD2
+12 more
Copy number loss
Obesity
+1 more
GPathogenic
UCP3
(D164N)
Single nucleotide variant
(missense variant)
Obesity
+1 more
GUncertain significance
POMC
(S9L)
Single nucleotide variant
(missense variant)
Obesity
+1 more
GUncertain significance
BDNF, BDNF-AS
(C186Y +4 more)
Single nucleotide variant
(missense variant)
Obesity
GLikely pathogenic
DIP2C
(R88W)
Single nucleotide variant
(missense variant)
Obesity
+1 more
GUncertain significance
ENPP1
(I567V)
Single nucleotide variant
(missense variant)
Hypophosphatemic rickets, autosomal recessive, 2
+5 more
GUncertain significance
ENPP1
(T209M)
Single nucleotide variant
(missense variant)
Arterial calcification, generalized, of infancy, 1
+5 more
GUncertain significance
PPARG
(S19fs +2 more)
Deletion
(frameshift variant +1 more)
Obesity
GLikely pathogenic
ENPP1
Deletion
(intron variant)
Hypophosphatemic rickets, autosomal recessive, 2
+4 more
GBenign
MC4R
(Y35* +1 more)
Single nucleotide variant
(nonsense +1 more)
Obesity
GPathogenic
ENPP1
(G229S)
Single nucleotide variant
(missense variant)
Arterial calcification, generalized, of infancy, 1
+5 more
GUncertain significance
ENPP1
(A205E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+6 more
GUncertain significance
ENPP1
Single nucleotide variant
(3 prime UTR variant)
Arterial calcification, generalized, of infancy, 1
+4 more
GUncertain significance
ENPP1
(V794I)
Single nucleotide variant
(missense variant)
Arterial calcification, generalized, of infancy, 1
+6 more
GUncertain significance
PPARG
Single nucleotide variant
(3 prime UTR variant +1 more)
Obesity
+2 more
GConflicting classifications of pathogenicity
PPARG, LOC114803475
(R240Q +2 more)
Single nucleotide variant
(missense variant +1 more)
PPARG-related familial partial lipodystrophy
+5 more
GConflicting classifications of pathogenicity
PPARG
(D21A +2 more)
Single nucleotide variant
(missense variant +1 more)
Obesity
+2 more
GUncertain significance
PPARG
(D146G +3 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
PPARG
Single nucleotide variant
(synonymous variant +1 more)
Obesity
+2 more
GConflicting classifications of pathogenicity
POMC
Single nucleotide variant
(synonymous variant)
Obesity
+1 more
GUncertain significance
POMC
(Y221C)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
POMC
Single nucleotide variant
(synonymous variant)
Obesity
+1 more
GUncertain significance
POMC
(T39M)
Single nucleotide variant
(missense variant)
Obesity
+1 more
GUncertain significance
POMC
(S95G)
Single nucleotide variant
(missense variant)
Obesity
+1 more
GUncertain significance
POMC
(P132A)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
LOC108167315, POMC
Single nucleotide variant
Obesity due to pro-opiomelanocortin deficiency
+1 more
GUncertain significance
POMC
(A164V)
Single nucleotide variant
(missense variant)
Obesity
+1 more
GUncertain significance
POMC
Single nucleotide variant
(synonymous variant)
Obesity due to pro-opiomelanocortin deficiency
+2 more
GConflicting classifications of pathogenicity
POMC
(A213V)
Single nucleotide variant
(missense variant)
Obesity due to pro-opiomelanocortin deficiency
+2 more
GUncertain significance
MC4R
(I125V)
Single nucleotide variant
(missense variant)
Obesity
GUncertain significance
MC4R
Single nucleotide variant
(synonymous variant)
Obesity
+1 more
GConflicting classifications of pathogenicity
MC4R
Single nucleotide variant
(synonymous variant)
Obesity
GUncertain significance
MC4R
(M215I)
Single nucleotide variant
(missense variant)
Obesity
GUncertain significance
MC4R
Single nucleotide variant
(5 prime UTR variant)
Obesity
GUncertain significance
MC4R
Single nucleotide variant
(5 prime UTR variant)
Obesity
GUncertain significance
MC4R
Single nucleotide variant
(5 prime UTR variant)
Obesity
GUncertain significance
MC4R
Single nucleotide variant
(5 prime UTR variant)
Obesity
GUncertain significance
MC4R
(A219S)
Single nucleotide variant
(missense variant)
Obesity
GUncertain significance
MC4R
(P272R)
Single nucleotide variant
(missense variant)
Obesity
+1 more
GUncertain significance
MC4R
(C279Y)
Single nucleotide variant
(missense variant)
Obesity
GUncertain significance
MC4R
(R310K)
Single nucleotide variant
(missense variant)
Obesity
GUncertain significance
MC4R
Single nucleotide variant
(5 prime UTR variant)
Obesity
GBenign
MC4R
Single nucleotide variant
(5 prime UTR variant)
Obesity
GUncertain significance
MC4R
Single nucleotide variant
(5 prime UTR variant)
Obesity
+1 more
GUncertain significance
MC4R
Single nucleotide variant
(5 prime UTR variant)
Obesity
GUncertain significance
MC4R
(I317F)
Single nucleotide variant
(missense variant)
Obesity
GUncertain significance
MC4R
Single nucleotide variant
(5 prime UTR variant)
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
+1 more
GUncertain significance
MC4R
Single nucleotide variant
(synonymous variant)
Obesity
GUncertain significance
MC4R
Single nucleotide variant
(synonymous variant)
Obesity
GUncertain significance
ENPP1
Deletion
(splice donor variant)
Hypopigmentation-punctate palmoplantar keratoderma syndrome
+5 more
GUncertain significance
CDKAL1
Single nucleotide variant
(intron variant)
Obesity
Grisk factor
Single nucleotide variant
Obesity
Grisk factor
Single nucleotide variant
Obesity
Grisk factor
UCP3
(A122V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ENPP1
Single nucleotide variant
(intron variant)
not provided
+5 more
GLikely benign
NR0B2, NUDC
(S158N)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
UCP3
Single nucleotide variant
(synonymous variant)
Obesity
+1 more
GBenign/Likely benign
MC4R
Single nucleotide variant
(synonymous variant)
Obesity
+1 more
GBenign/Likely benign
UCP3
(R119Q)
Single nucleotide variant
(missense variant)
Obesity
+1 more
GLikely benign
POMC
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
UCP3
Single nucleotide variant
(intron variant)
Obesity
+2 more
GBenign/Likely benign
ENPP1
Single nucleotide variant
(synonymous variant)
Type 2 diabetes mellitus
+5 more
GLikely benign
MC4R
(T112M)
Single nucleotide variant
(missense variant)
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
+2 more
GConflicting classifications of pathogenicity
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